Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The term spasticity is used to describe many relatively unrelated syndromes and, because they share few common pathophysiologic mechanisms, it is not possible to define the physiology or pharmacology of spasticity. In patients with spastic paresis, it is the latter negative symptom (rather than the spasticity) that accounts for almost all the functional disability. Clinical neurophysiologic techniques are useful for categorization of patients with clinically identical syndromes into subgroups which respond to different therapies. Fusimotor or spindle primary afferent hyperactivity have not been demonstrated in spastic patients; reduction in central inhibitory mechanisms probably accounts for spastic hyper-reflexia. Increased passive muscle stiffness may also be clinically significant. Therapies for spasticity include elimination of causative or enhancing factors, frequent muscle stretching, surgical approaches and chemotherapy. The latter includes dantrolene (which weakens muscles), baclofen (particularly useful for reduction of flexor spasms and flexor dystonia in patients with spinal lesions) and diazepam.
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PMID:Physiologic and pharmacologic approaches to spasticity. 332 74

The authors report a Chinese boy with a DYT1 gene mutation having muscle stiffness, severe painful muscle spasm, myoclonus, and dystonia compatible with stiff child syndrome. Autoantibodies to glutamic acid decarboxylase (anti-GAD) were absent. His asymptomatic mother had a DYT1 mutation. His asymptomatic sister has diabetes mellitus and antibodies to glutamic acid decarboxylase but no DYT1 mutation.
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PMID:Stiff child syndrome with mutation of DYT1 gene. 1668 92

Stiff person syndrome (SPS) is a rare neurological disorder characterised by muscular rigidity and superimposed spasms of the trunk and limbs that may be precipitated by voluntary movements and unexpected tactile, auditory or emotional stimulation. The high prevalence of autoantibodies against glutamic acid decarboxylase (antiGAD) in both serum and cerebrospinal fluid, as well as the frequent association of SPS with other autoimmune disorders, suggest an autoimmune pathogenesis. SPS is frequently misdiagnosed as axial dystonia or psychogenic movement disorder. We report a patient with SPS in order to emphasise the reasons for this common misdiagnosis.
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PMID:Stiff person syndrome: avoiding misdiagnosis. 1738 93

Spasticity is usually observed along with paralysis, hyperreflexia, Babinski sign and abnormal associated movements associated with dysfunction of central motor tracts. In spasticity, exaggeration of the stretch reflex results in increased resistance during passive movements. Therefore, spasticity is pathophysiologically described as increased muscle tone whose pathognomonic sign is decreased passivity. Resistance is more strongly felt during rapid passive movements than during slow movements. The resistance felt at the beginning of the passive movement abruptly diminishes, which is well known as the clasp-knife phenomenon. Another character of spasticity is the distribution of the increment in the muscle tone. Not only rigidity, dystonia, and muscle stiffness demonstrating increased muscle tone, but also Gegenhalten and contracture of joint with normal muscle tone should be differentiated. No neurophysiological parameters reflect the degree of spasticity in a strictly parallel fashion. However, neurophysiological examinations provide some supportive objective data. Surface electromyography is useful to distinguish spasticity from rigidity and other conditions with increase muscle tone. The increased amplitude ratio and the decreased threshold ratio of the H-wave to the M-wave, and increased amplitude and persistence of the F-wave are observed the patients with spasticity. Magnetic stimulation is a useful tool to detect corticospinal tract lesions that induce leading to spasticity. Transcranial magnetic stimulation, magnetic brainstem stimulation, and magnetic spinal motor root stimulation are used to examine the entire motor pathway. Since positive correlation between spasticity and shortening of the silent period is reported, many investigations including paired-pulse magnetic stimulation will be necessary for understanding pathophysiology of spasticity. Patients with mild and reversible spasticity are usually treated with medications. Significant variations exist in the use of these therapies, because the treatments often depend on the clinicians' experience. It will be necessary to clarify the action mechanism of drugs, to develop new effective drugs, and to perform randomized controlled trails so that clinicians can select the optimal medication based on evidence.
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PMID:[Clinical signs, neurophysiological evaluation, and medication of spasticity--review]. 1911 Jul 51

A Dutch Improved Red and White cross-breed heifer calf was evaluated for a muscular disorder resulting in exercise induced muscle stiffness. Clinical findings included generalized exercise-induced muscle spasms with normal response to muscle percussion. Electromyography showed no myotonic discharges, thus ruling out myotonia. Whereas histological examination of muscle tissue was unremarkable, Ca(2+)-ATPase activity of sarcoplasmatic reticulum membranes (SERCA1) was markedly decreased compared to control animals. Mutation analysis revealed the presence of a missense mutation in the ATP2A1 gene encoding the SERCA1 protein (p.Arg559Cys). The present case presents similarities to human Brody's disease, but also to pseudomyotonia and congenital muscular dystonia previously described in different cattle breeds.
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PMID:Pseudomyotonia, a muscle function disorder associated with an inherited ATP2A1 (SERCA1) defect in a Dutch Improved Red and White cross-breed calf. 2054 55

Botulinum toxin (BoNT) has been used as a treatment for excessive muscle stiffness, spasticity, and dystonia. BoNT for approximately 40 years, and has recently been used to treat various types of neuropathic pain. The mechanism by which BoNT acts on neuropathic pain involves inhibiting the release of inflammatory mediators and peripheral neurotransmitters from sensory nerves. Recent journals have demonstrated that BoNT is effective for neuropathic pain, such as postherpetic neuralgia, trigeminal neuralgia, and peripheral neuralgia. The purpose of this review is to summarize the experimental and clinical evidence of the mechanism by which BoNT acts on various types of neuropathic pain and describe why BoNT can be applied as treatment. The PubMed database was searched from 1988 to May 2017. Recent studies have demonstrated that BoNT injections are effective treatments for post-herpetic neuralgia, diabetic neuropathy, trigeminal neuralgia, and intractable neuropathic pain, such as poststroke pain and spinal cord injury.
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PMID:Botulinum Toxin for the Treatment of Neuropathic Pain. 2883 75

Glutaric acidemia type I (GA1) is caused by severe deficiency of glutaryl-CoA dehydrogenase activity, resulting in an accumulation of glutaric acid and glutarylcarnitine (C5DC) in the organism. Patients affected by GA1 are asymptomatic in the neonate period but usually manifest chronically progressive neurodegeneration apart from severe encephalopathic crises associated with acute striatum necrosis. Neurological manifestations like dyskinesia, dystonia, hypotonia, muscle stiffness, and spasticity are present. Treatment is based on protein/lysine restriction and l-carnitine supplementation. In this work, we evaluated markers of neurodegeneration and inflammation, namely BDNF (brain-derived neurotrophic factor), NCAM (neuronal adhesion molecule), PDGF-AA (platelet-derived growth factor), and cathepsin-d in plasma of six treated GA1 patients. We first found marked increases of plasma C5DC concentrations in GA1 patients, as well as increased levels of the markers BDNF and cathepsin-d as compared to those of age-matched healthy children. Furthermore, C5DC concentrations were highly correlated with the levels of cathepsin-d. These results may demonstrate that brain tissue degeneration is present in GA1 patients and that there is a relationship between increased metabolites concentrations with this process. To the best of our knowledge, this is so far the first study showing altered peripheral parameters of neurodegeneration and inflammation in GA1 patients.
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PMID:Elevated levels of BDNF and cathepsin-d as possible peripheral markers of neurodegeneration in plasma of patients with glutaric acidemia type I. 3191 Feb 96